Canonical Allele Identifier: CA2658520144

Gene: SPAST

Linked Data

• gnomAD v4: 2-32064292-C-CGCGGGAAAGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064293_32064294insCGGGAAAGAGGGGG , CM000664.2:g.32064293_32064294insCGGGAAAGAGGGGG	GRCh38
NC_000002.11:g.32289362_32289363insCGGGAAAGAGGGGG , CM000664.1:g.32289362_32289363insCGGGAAAGAGGGGG	GRCh37
NC_000002.10:g.32142866_32142867insCGGGAAAGAGGGGG	NCBI36
NG_008730.1:g.5683_5684insCGGGAAAGAGGGGG , LRG_714:g.5683_5684insCGGGAAAGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000515816.1:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000315285.9:c.415+47_415+48insCGGGAAAGAGGGGG MANE Select	ENSP00000320885.3:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000621856.2:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000482496.2:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000642281.1:c.299+47_299+48insCGGGAAAGAGGGGG
ENST00000642455.1:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000493827.1:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000642751.1:c.285+47_285+48insCGGGAAAGAGGGGG
ENST00000642999.1:c.157+47_157+48insCGGGAAAGAGGGGG	ENSP00000496589.1:n.157+47_157+48insCGGGAAAGAGGGGG
ENST00000644408.1:c.291+47_291+48insCGGGAAAGAGGGGG
ENST00000644954.1:c.157+47_157+48insCGGGAAAGAGGGGG	ENSP00000494312.1:n.157+47_157+48insCGGGAAAGAGGGGG
ENST00000645400.1:c.256+47_256+48insCGGGAAAGAGGGGG	ENSP00000496306.1:n.256+47_256+48insCGGGAAAGAGGGGG
ENST00000645671.1:c.36+47_36+48insCGGGAAAGAGGGGG
ENST00000646082.1:c.249+47_249+48insCGGGAAAGAGGGGG
ENST00000646571.1:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000495015.1:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000315285.7:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000320885.3:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000345662.5:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000340817.1:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000615843.4:c.415+47_415+48insCGGGAAAGAGGGGG	ENSP00000480893.1:n.415+47_415+48insCGGGAAAGAGGGGG
ENST00000621856.1:c.157+47_157+48insCGGGAAAGAGGGGG	ENSP00000482496.1:n.157+47_157+48insCGGGAAAGAGGGGG
NM_014946.3:c.415+47_415+48insCGGGAAAGAGGGGG , LRG_714t1:c.415+47_415+48insCGGGAAAGAGGGGG	NP_055761.2:n.415+47_415+48insCGGGAAAGAGGGGG
NM_199436.1:c.415+47_415+48insCGGGAAAGAGGGGG	NP_955468.1:n.415+47_415+48insCGGGAAAGAGGGGG
XM_005264516.3:c.415+47_415+48insCGGGAAAGAGGGGG	XP_005264573.1:n.415+47_415+48insCGGGAAAGAGGGGG
XM_011533067.1:c.415+47_415+48insCGGGAAAGAGGGGG	XP_011531369.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_001363823.1:c.415+47_415+48insCGGGAAAGAGGGGG	NP_001350752.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_001363875.1:c.415+47_415+48insCGGGAAAGAGGGGG	NP_001350804.1:n.415+47_415+48insCGGGAAAGAGGGGG
XM_005264516.5:c.415+47_415+48insCGGGAAAGAGGGGG	XP_005264573.1:n.415+47_415+48insCGGGAAAGAGGGGG
XM_011533067.2:c.415+47_415+48insCGGGAAAGAGGGGG	XP_011531369.1:n.415+47_415+48insCGGGAAAGAGGGGG
XM_017004778.2:c.415+47_415+48insCGGGAAAGAGGGGG	XP_016860267.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_001363823.2:c.415+47_415+48insCGGGAAAGAGGGGG	NP_001350752.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_001363875.2:c.415+47_415+48insCGGGAAAGAGGGGG	NP_001350804.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_001377959.1:c.415+47_415+48insCGGGAAAGAGGGGG	NP_001364888.1:n.415+47_415+48insCGGGAAAGAGGGGG
NM_014946.4:c.415+47_415+48insCGGGAAAGAGGGGG MANE Select	NP_055761.2:n.415+47_415+48insCGGGAAAGAGGGGG
NM_199436.2:c.415+47_415+48insCGGGAAAGAGGGGG	NP_955468.1:n.415+47_415+48insCGGGAAAGAGGGGG